Clefting
Gene: FLNB

FLNB (filamin B)
EnsemblGeneIds (GRCh38): ENSG00000136068
EnsemblGeneIds (GRCh37): ENSG00000136068
OMIM: 603381, Gene2Phenotype
FLNB is in 9 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: changed status from Amber to Green- Clefting is noted in 3 or more unrelated cases for each of the associated disorders to FLNB
Created: 30 May 2017, 12:39 p.m.

Comment on list classification: Changed status from Red to Amber. There seems to be enough evidence that FLNB is involved in a number of syndromic disorders that include clefting and are collectively known as FLNB-Related Spectrum Disorders (PMID:20301736). Spondylocarpotarsal synostosis syndrome has more that 3 unrelated cases (14991055), Larsen syndrome has more than 3 unrelated cases (PMID:14991055,16801345), Atelosteogenesis, type I has 4 unrelated cases (PMID: 14991055, 24624349) and Atelosteogenesis, type III has 3 unrelated cases (PMID:14991055,27258362, 10076882).
Created: 26 Jan 2017, 1:26 p.m.

Comment on mode of inheritance:
Spondylocarpotarsal synostosis syndrome, BIALLELIC, autosomal or pseudoautosomal;
Larsen syndrome, MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown;
Atelosteogenesis, type I, MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Atelosteogenesis, type III MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown.
Created: 26 Jan 2017, 1:18 p.m.

Created: 26 Jan 2017, 12:18 p.m.

Panel version: 0.118

Usha Kini (Oxford Centre for Genomic Medicine)

Not a common cause of orofacial clefting
Created: 8 Dec 2016, 10:45 a.m.

Phenotypes
Skeletal dysplasia with midline cleft palate

Created: 8 Dec 2016, 10:45 a.m.

Panel version: 0.35

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Skeletal dysplasia with midline cleft palate
Orofacial Clefting with skeletal features
Spondylocarpotarsal synostosis syndrome (includes clefting), BIALLELIC, autosomal or pseudoautosomal, 272460
Larsen syndrome (includes clefting) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 150250
Atelosteogenesis, type I (includes clefting), MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 108720
Atelosteogenesis, type III MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown (includes clefting), 108721

OMIM

603381

Clinvar variants

Variants in FLNB

Penetrance

Complete

Panels with this gene